Projects

Funding Summary Associate Professor Blewitt and her research team study how genes shift between ‘sleeping’ to ‘awake’ states, and how this impacts a range of diseases. “A protein called SMCHD1 keeps many genes in their sleeping state,” Associate Professor Blewitt said. “We discovered that SMCHD1’s targets include some of the maternal genes that false

Funding Summary Dr. Reiter is analyzing neurons, made from stem cells from individuals with PWS. He has noted disruptions in the circadian rhythm of these cells (day/night cycle) that may reflect sleep problems in PWS. His work will identify how the circadian rhythms are disrupted in PWS cells, and pave the way for identifying new drugs to false

Funding Summary This grant supports a new collaboration between two scientists with complimentary expertise. Drs. Sebastian Bouret and Francoise Muscatelli will work to define critical periods for oxytocin use in PWS models, and optimize this therapeutic approach. Mouse models will be used to define the critical period during which oxytocin might false

Funding Summary Universal newborn screening for PWS will ensure that all babies with PWS are diagnosed at birth. Dr. Godler has developed a sensitive, accurate and cost-effective DNA test for detection of PWS and Angelman syndrome using the bloodspots (“heelprick”) obtained in all newborns. In the study, FPWR is collaborating with with the false

Funding Summary This grant will support a small clinical trial evaluating the impact of cannibidiol cannabidivarin (CBDV) on hunger and behavior. CBDV is a compound similar to CBD, but with potential advantages over CBD for PWS. In this study, Dr. Hollander’s group will investigate a form of CBDV, a non-psychoactive drug that has false

Funding Summary Dr. Lee’s group is exploring the use of a novel gene transfer vehicle, exosomes, to deliver missing portions of the PWS genes to the hypothalamus. In this pilot study, they seek to develop PWS-specific exosomes and test how well these can deliver genes to neurons and other cells.

Funding Summary Families of those with PWS experience a great deal of stress, particularly during adolescence. In this study, we are funding the development of a new behavioral intervention, aimed at developing more effective coping skills in fathers of adolescents with PWS, as a means to improve overall family well being. Dr. Forster will work false

Funding Summary Guanfacine XR (brand name Intuniv) is a medication for ADHD that improves impulse control. Dr. Singh has noted improvements in aggression and self injury in PWS patients in his practice when using this medication. In this study, he will perform a pragmatic clinical trial to evaluate the efficacy of guanfacine for treating these false

Funding Summary This project takes the first steps towards developing a primate (macaque) model of PWS. Animal models of PWS are currently limited and are not able to replicate some important aspects of PWS, such as intellectual disability, as well as behavioral and social impairments. These aspects of PWS may be more effectively studied in a false